Articles tagged with Genetic Testing
A new study provides insights into the treatment of Christianson syndrome, a genetic brain disease characterized by reduced brain growth and intellectual disability. Researchers successfully tested two main forms of treatment on stem-cell-derived neurons, finding that gene transfer was effective in neurons with nonsense mutations, whil...
A new gene panel test developed by researchers allows for highly accurate diagnosis of liposarcoma types, distinguishing them from benign tumors and other cancers, with a success rate of 93% and costs of US$270 per case.
Researchers discovered a strong link between genetic changes and cerebral palsy, which often co-occurs with other neurodevelopmental disorders. The study identified disease-causing changes in 229 genes, decreasing the risk of recurrence for future children born to affected parents.
Researchers have found a new type of genetic change in people with hypertrophic cardiomyopathy (HCM), which can cause sudden death. This discovery will help doctors predict which family members need to be monitored and which can be ruled out from further tests.
The INTERVENE project aims to develop novel genome-based disease prediction tools using advanced AI approaches on genomic and health data. The project will test these tools in clinical settings for cardiovascular diseases, type 2 diabetes, and breast cancer.
A new Texas A&M AgriLife Research project aims to enable temporary genetic changes in mosquitoes, which then remove themselves from the population. The goal is to test and fine-tune a self-deleting gene technology to control mosquito populations and prevent disease transmission.
A new study assesses the implications of genetic testing for marketing strategy and research, highlighting potential uses and misuses of genetic data. The authors raise concerns about unique features of genetic data, including individual identification and predictive power, that may threaten consumer autonomy and privacy.
Researchers developed a new test that measures patients' immune response for accurate COVID-19 diagnosis. The test detects distinctive patterns of gene expression in infected individuals, which may help identify false negatives and false positives.
A study on lettuce reveals that the genetic basis of leaf heading is controlled by a single gene, LsKN1, which promotes compact head development and prolongs shelf life. The researchers found that a transposon insertion in this gene elevates its expression, leading to heading in crisphead lettuce.
A new study recommends strategies for generating polygenic risk scores that inspire confidence among consumers, reducing variability and improving the accuracy of these scores. By running algorithms multiple times and paying attention to variable elements, companies can improve the quality of scores delivered to customers.
A major new study found that men with two copies of the faulty haemochromatosis genes are 10 times more likely to develop liver cancer by age 75 compared to the general population. Researchers call for routine early testing for the iron overload condition.
The study aims to assess the prevalence and attitudes towards workplace genomic testing in diverse workplaces, as well as employees' interest and objections to such testing. The research team will analyze employers' perspectives, employee responses, and potential issues related to genetic privacy and discrimination.
The study analyzed national health record data to examine the rate of positive BRCA gene variant tests among older women. Between 2008 and 2018, the trend in positive results varied by age group, with younger women showing a higher increase in positivity.
Researchers created a microfluidic chip that can detect COVID-19 in just 30 minutes using CRISPR technology and 'lab on a chip' technology. The test is faster, cheaper, and more reliable than existing methods, with potential applications for detecting other diseases.
A new study reveals that women over 65 with breast cancer have a significant risk of developing the disease due to disease-causing mutations in predisposition genes. The researchers found that up to 20% of these women may still be at high risk for breast cancer, even without prior diagnosis.
A study using next generation genetic sequencing tracks mutations in the SARS-CoV-2 virus, aiding diagnostic testing accuracy and tracking its history. The study found variations in the virus' genetic sequence but none affected current tests, highlighting the importance of ongoing monitoring.
Researchers developed a new method to test potential cancer drugs in mice, allowing them to evaluate multiple genetic variants of the same cancer. This approach could accelerate the development of better treatments by increasing the number of tumour models tested with fewer animals.
A new study suggests genetic risk scoring of lipoprotein(a) can accurately predict atherosclerotic cardiovascular disease, comparable to directly measured levels. This could help physicians identify candidates for treatment or clinical trials, particularly those using direct-to-consumer genetic testing kits.
The University of Queensland's dipstick technology can extract genetic material in 30 seconds and provide a full molecular diagnosis in 40 minutes. This method has the potential to be used for affordable, rapid COVID-19 testing in various settings.
Researchers developed a technique to increase sensitivity of nasal swab tests by recognizing faint signals in diagnostic data. The new method helps spot asymptomatic cases more accurately and reduce false negatives.
A new study published in BMC Biology found that nearly all of the mutations tested had a negative effect on fertility early in life and accelerated reproductive ageing. This suggests that mutations contributing to ageing may be more common than previously thought.
Genetic testing is cost-effective for newly diagnosed metastatic GIST patients, enabling clinicians to prescribe tumor-specific chemotherapy. This approach avoids ineffective treatment and reduces disease progression rates.
A blood-based test accurately predicts nine different respiratory viral infections, including influenza and COVID-19, up to three days before maximum symptoms. The gene expression assay detects the body's natural immune response signals to identify a viral infection with high accuracy.
Researchers have developed two new genetic systems, e-CHACR and ERACR, to halt or eliminate the spread of gene drives in the wild. These systems use CRISPR technology to neutralize gene drives, which carry the power to immunize mosquitoes against malarial parasites or act as genetic insecticides.
A new trial suggests that children with asthma may benefit from personalized treatment based on genetic differences. The study found that children with two copies of a specific gene variant experienced an average improvement in quality of life score of 0.42.
A 25-year analysis of PGT for kidney diseases in the Netherlands shows that 65% of couples with at least one successful cycle experienced live births without kidney disease. The study highlights the importance of counseling patients on their reproductive options to make informed choices.
Researchers discovered that neutralizing antibodies provide protection from SARS-CoV-2 reinfection in a group of sailors who tested positive for these antibodies before embarking on a voyage. The high percentage of infected crew members highlights the importance of vaccination in preventing reinfections.
A recent trial found that genetic testing can significantly reduce the risk of serious cardiovascular events after balloon angioplasty. The study used personalized genetic testing to identify patients with a specific gene variation that affects the activation of antiplatelet medication, resulting in a 34% reduction in adverse events.
A new clinical trial, TAILOR-PCI, found that genetic testing can identify patients who may benefit from alternative antiplatelet therapy. The study showed a statistically significant 40% reduction in blood clotting events in patients with the CYP2C19 gene variation who received genotype-guided treatment.
A new molecule called TPPU has been shown to suppress the inflammatory process, reducing inflammation and joint tissue wear and tear in mice with genetically induced arthritis. Arthritic mice treated with TPPU displayed less pain and swelling and had lower clinical scores.
A new blood test has demonstrated remarkable promise in discriminating between individuals with and without Alzheimer's disease. The test measures phospho-tau217, a protein found in tau tangles, and shows great accuracy in detecting the disease, even in its early stages.
Researchers at Nanyang Technological University in Singapore have developed a new, rapid COVID-19 diagnostic test that can produce results in just 36 minutes. The portable test works for other viruses like dengue and can be used in low-resource settings.
A new variety of pinto bean has been developed with a slow-darkening trait, which improves agronomic performance and cooking time. The beans show higher yields compared to regular varieties, benefiting both farmers and consumers.
A research group has identified a novel autoantibody as a major risk factor for recurrent pregnancy loss, with the antibody found in 52 out of 227 patients. The discovery suggests that the antibody may be connected to RPL even after ruling out other common causes.
Researchers have developed a droplet biosensing method that can detect the presence of COVID-19 in a sample in just minutes. This fast and accurate method uses surface-enhanced Raman spectroscopy to analyze viral genetic material, reducing testing time and error margin.
A research team from Göttingen University has re-examined the skin of Dark Ronald XX and found no evidence of the PLOD1 mutation responsible for Warmblood fragile foal syndrome. The study suggests that the disease may have originated from a different genetic source, challenging previous theories.
A study published in Neurology suggests that at least one million Chinese people with epilepsy could be candidates for a standard operation to leave them seizure-free. The study found 108 patients with lesions that could potentially be cured by surgery, with a high success rate of around 70-80%.
A systematic review and network meta-analysis suggest metformin-based therapy as a preferred first-line treatment for drug-naive patients with type 2 diabetes at low cardiovascular risk. Insulin regimens and GLP-1 RAs added to metformin-based background therapy produced the greatest reductions in hemoglobin A1c level.
A patient-personalized sequencing pipeline, INVAR, enhances the sensitivity of circulating tumor DNA (ctDNA) detection in plasma samples. This technique analyzes hundreds of patient-specific mutations to detect ctDNA, enabling more accurate monitoring and potentially early relapse spotting.
A new study by Johns Hopkins Medicine found that SARS-CoV-2 testing can yield false negative results if conducted too early in the infection process. The test's accuracy improved when patients displayed symptoms of COVID-19, but even then had a 20% chance of a false negative result.
Researchers tested 27 published diagnostic PCR assays and found seven with potential sequence mismatch issues that may lead to underperforming or false-negative COVID-19 test results. This study highlights the importance of re-evaluating current tests periodically to ensure their efficacy in detecting circulating variants of the virus.
Clinical genetics services are struggling to cope with the influx of direct-to-consumer (DTC) genetic testing referrals, with many GPs ill-equipped to interpret results. The lack of resources and funding is exacerbating the issue, with only 10% of DTC test results validated.
A new study suggests that genetic testing for acute myeloid leukemia (AML) can be delayed without negatively impacting patient outcomes. For stable patients, waiting a week or more for test results allows doctors to assign the correct subgroup and select targeted treatment.
A new clinical trial has validated a remote genetic counseling approach, enabling women to assess their cancer risk from the comfort of their own homes. The study showed that skipping personalized counseling did not increase patients' distress and may lead to increased access for genetic testing.
The interface of genomic information with the electronic health record emphasizes the importance of patient autonomy, access, and privacy in integrating genomic data into EHRs. The document provides guidelines on data storage, access, and usage, aiming to optimize benefits while minimizing harm, and recommends standards for interoperab...
A new assay has been developed to improve prenatal detection of alpha-thalassemia, allowing for clinical diagnosis and large-scale population screening. The one-step nested asymmetric PCR melting curve analysis assay shows high sensitivity and specificity, and can be completed in under 2.5 hours.
A new testing system developed by researchers at the University of Chicago can quantify bacteria, antibiotic-resistant genes, and immune molecule levels in sepsis patients, predicting patient outcomes with high accuracy. This innovative approach enables personalized treatment strategies and may improve patient survival rates.
The International Association for the Study of Lung Cancer found that molecular testing rates for lung cancer are less than 50% in most countries. The most frequent barrier to testing was cost, followed by quality/standards and access.
The American College of Medical Genetics and Genomics has released an updated technical standard for CFTR variant testing, incorporating revised information about cystic fibrosis and the CFTR gene. The new guidelines aim to improve the accuracy and efficiency of genetic screening and diagnosis.
The new peer-reviewed journal Forensic Genomics will document advances in genetic testing and genome sequencing to support human identification. The Journal will accept original research papers and genealogical research on DNA testing technologies, algorithms, artificial intelligence, and genealogical methods.
A study of nearly 1,300 individuals with ASD found that many receive recommended genetic tests, but factors such as insurance coverage and provider recommendations influence the rates. The findings highlight the importance of personalized approach to genetic testing for individuals with ASD.
A study analyzing data from the Rhode Island Consortium for Autism Research and Treatment found that only 3% of individuals diagnosed with autism spectrum disorder reported having fully received clinical genetic tests recommended by medical professional societies. The study reveals a dissonance between professional recommendations and ...
Researchers have developed a test to identify lobster hybrids resulting from crossbreeding between European and American lobsters, posing a potential threat to conservation efforts. The study highlights the importance of genetics in distinguishing hybrid lobsters that may spread unwanted genes across native populations.
A recent study found that nearly 1% of the population carry genetic variants substantially increasing CVD and cancer risk. However, relying on family history alone may fail to identify high-risk individuals, highlighting the need for broader genetic testing populations.
A new study found that commercially available genetic tests for determining hemp plant sex may not be accurate, which could increase yields and reduce prices of CBD production. Researchers at Salisbury University tested three primer pairs and found two to be effective in identifying male seedlings.
A new study has investigated the role of pet care in the spread of multidrug-resistant organisms (MDROs) among hospital patients. The research found no significant difference in pet care or closeness of contact to pets between MDRO-positive and MDRO-negative patients, with only a small percentage of pet owners and their pets infected.
A recent study found disease-causing E. coli in recreational waters across Ireland, including those rated excellent under EU criteria. The research highlights the limitations of current water quality assessments, which only consider total E. coli counts without accounting for pathogenic variants.
A new high-resolution melting analysis-based test (HRM) has been developed to improve the diagnosis of recurrent pregnancy loss (RPL), a condition affecting approximately five percent of women. The test is accurate, rapid, and cost-effective, offering better value than current genetic testing methods.
A new genome editing system has been developed to enhance the efficiency of an error-free DNA repair pathway, which could help improve agronomic traits in multiple crops. The system uses Cas9 and VirD2 to facilitate homology-directed repair, increasing the rate of precise genetic modifications.
A clinical trial using genetic testing to guide antiplatelet medication found a 34% reduction in serious cardiovascular events at one year, as well as a significant decrease in the number of events per patient. This finding suggests that genetically guided therapy may be beneficial for patients with specific genetic variants.